Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Denr'

19604

Institutional Source

Beutler Lab

Gene Symbol

Denr

Ensembl Gene

ENSMUSG00000023106

Gene Name

density-regulated protein

Synonyms

1500003K04Rik

MMRRC Submission

038366-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124045309-124066705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 124062908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 137 (F137C)

Ref Sequence

ENSEMBL: ENSMUSP00000023869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023869] [ENSMUST00000166129] [ENSMUST00000166233]

AlphaFold

Q9CQJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023869
AA Change: F137C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023869
Gene: ENSMUSG00000023106
AA Change: F137C

Domain	Start	End	E-Value	Type
Pfam:SUI1	111	184	3.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166129

SMART Domains

Protein: ENSMUSP00000143501
Gene: ENSMUSG00000105875

Domain	Start	End	E-Value	Type
coiled coil region	16	109	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166233
AA Change: F137C

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126174
Gene: ENSMUSG00000023106
AA Change: F137C

Domain	Start	End	E-Value	Type
Pfam:SUI1	108	183	4e-19	PFAM

Meta Mutation Damage Score

0.7199

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,057,183 (GRCm39)	T105S	possibly damaging	Het
Abca13	G	A	11: 9,243,493 (GRCm39)	M1785I	probably benign	Het
Adamts3	G	C	5: 89,840,912 (GRCm39)	P804A	probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ank2	G	T	3: 126,728,264 (GRCm39)	D776E	probably benign	Het
Cep152	T	A	2: 125,460,373 (GRCm39)	K193M	possibly damaging	Het
Cep55	C	T	19: 38,048,769 (GRCm39)	L142F	probably benign	Het
Chd5	A	G	4: 152,470,206 (GRCm39)	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,471,034 (GRCm39)	L890P	probably damaging	Het
Cul9	C	A	17: 46,848,589 (GRCm39)	E716*	probably null	Het
Cytip	T	A	2: 58,050,006 (GRCm39)	D21V	probably benign	Het
Dhrs3	A	T	4: 144,646,618 (GRCm39)	S197C	probably damaging	Het
Egr4	A	T	6: 85,489,751 (GRCm39)	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,192,676 (GRCm39)	Q835*	probably null	Het
Gckr	A	G	5: 31,463,883 (GRCm39)	I268V	probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hpd	T	C	5: 123,319,544 (GRCm39)	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,338,889 (GRCm39)	F16I	probably benign	Het
Ildr2	A	T	1: 166,135,289 (GRCm39)	Y347F	probably damaging	Het
Kcnv1	T	C	15: 44,976,729 (GRCm39)	D186G	probably damaging	Het
Khdrbs2	A	G	1: 32,558,996 (GRCm39)		probably null	Het
L1cam	G	T	X: 72,913,364 (GRCm39)	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768 (GRCm39)	H161R	probably damaging	Het
Mctp2	T	A	7: 71,863,864 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mitf	A	C	6: 97,973,401 (GRCm39)	M220L	probably benign	Het
Mrpl21	T	C	19: 3,334,807 (GRCm39)	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,104,237 (GRCm39)	L968Q	probably damaging	Het
Myo3b	A	G	2: 69,925,502 (GRCm39)	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,330,729 (GRCm39)	T556S	possibly damaging	Het
Nsmf	T	C	2: 24,949,096 (GRCm39)		probably benign	Het
Nsun7	C	T	5: 66,452,856 (GRCm39)	P558S	probably benign	Het
Or10h5	G	A	17: 33,435,079 (GRCm39)	R80C	probably benign	Het
Or1e34	T	G	11: 73,778,563 (GRCm39)	I212L	probably benign	Het
Or56a3	T	C	7: 104,735,135 (GRCm39)	S71P	probably damaging	Het
Or5d40	A	T	2: 88,015,698 (GRCm39)	Y159F	possibly damaging	Het
Phf19	T	C	2: 34,785,966 (GRCm39)	N501S	probably benign	Het
Ranbp17	A	C	11: 33,450,682 (GRCm39)	I85S	probably damaging	Het
Robo1	A	G	16: 72,730,230 (GRCm39)		probably benign	Het
Sntg1	A	G	1: 8,749,286 (GRCm39)		probably benign	Het
Snx15	A	G	19: 6,173,943 (GRCm39)	L58P	probably damaging	Het
Spink5	G	T	18: 44,110,831 (GRCm39)	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,532 (GRCm39)		probably null	Het
Taf1d	C	T	9: 15,221,240 (GRCm39)	A182V	probably benign	Het
Tenm3	A	G	8: 48,796,380 (GRCm39)	V475A	possibly damaging	Het
Tent4b	T	A	8: 88,926,631 (GRCm39)	Y14N	possibly damaging	Het
Tgds	A	T	14: 118,353,647 (GRCm39)	H223Q	possibly damaging	Het
Thoc2	G	T	X: 40,952,985 (GRCm39)	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trak2	A	T	1: 58,965,883 (GRCm39)	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,041,656 (GRCm39)	Y145H	probably damaging	Het
Vars2	A	T	17: 35,970,048 (GRCm39)	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,735 (GRCm39)	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,408,777 (GRCm39)	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdr64	T	C	1: 175,622,668 (GRCm39)	M805T	probably benign	Het
Xdh	G	A	17: 74,198,213 (GRCm39)	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,466,914 (GRCm39)	Y94*	probably null	Het
Zfp641	T	C	15: 98,186,970 (GRCm39)	N218D	probably benign	Het
Zscan22	T	C	7: 12,638,014 (GRCm39)		probably null	Het

Other mutations in Denr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Denr	APN	5	124,046,182 (GRCm39)	missense	probably benign	0.19
R0007:Denr	UTSW	5	124,062,877 (GRCm39)	missense	probably damaging	1.00
R0007:Denr	UTSW	5	124,062,877 (GRCm39)	missense	probably damaging	1.00
R0025:Denr	UTSW	5	124,065,298 (GRCm39)	unclassified	probably benign
R0567:Denr	UTSW	5	124,046,221 (GRCm39)	missense	probably benign	0.01
R1818:Denr	UTSW	5	124,055,283 (GRCm39)	missense	probably benign	0.00
R5125:Denr	UTSW	5	124,065,144 (GRCm39)	missense	probably damaging	1.00
R6930:Denr	UTSW	5	124,046,250 (GRCm39)	missense	probably benign	0.02
R7657:Denr	UTSW	5	124,046,263 (GRCm39)	missense	probably damaging	0.96
R8379:Denr	UTSW	5	124,065,124 (GRCm39)	missense	possibly damaging	0.59
R8970:Denr	UTSW	5	124,055,279 (GRCm39)	missense	probably damaging	1.00
R9680:Denr	UTSW	5	124,065,117 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CAGCCGTTTGTCTTCACCTGTGTA -3'
(R):5'- CCCGTTAGCACCTCTTTGGCAT -3'

Sequencing Primer
(F):5'- cagcacatagtaggcaccag -3'
(R):5'- AGATATCTGGAAGCTGGGGATG -3'

Posted On

2013-04-11